| Primary Identifier | MGI:1349390 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 26875 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables profilin binding activity. A structural constituent of presynaptic active zone. Involved in several processes, including presynapse to nucleus signaling pathway; presynaptic actin cytoskeleton organization; and synaptic vesicle clustering. Acts upstream of or within cytoskeleton organization; insulin secretion; and regulation of exocytosis. Located in postsynaptic density and presynaptic active zone cytoplasmic component. Is expressed in nervous system and sensory organ. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 3. Orthologous to human PCLO (piccolo presynaptic cytomatrix protein). PHENOTYPE: Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
